Author

Edgar T. Hoorntje

University Medical Center GroningenORCID 0000-0002-8326-7717Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Birgit Sikkema‐RaddatziD· 1 shared Cleo C. van DiemeniD· 1 shared Conny M.A. van Ravenswaaij‐ArtsiD· 1 shared Erica H. Gerkes· 1 shared Evelien Zonneveld‐HuijssooniD· 1 shared Harm Brugge· 1 shared Jan D.H. JongbloediD· 1 shared Jelkje J. de Boer-BergsmaiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Birgit Sikkema‐RaddatzORCID

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1 paper

Recent·Most cited

GeneticsNature CommunicationsPeer-reviewedJun 28, 2019

Improving the diagnostic yield of exome-sequencing, by predicting gene-phenotype associations using large-scale gene expression analysis

Patrick Deelen, Sipko van Dam, Johanna C. Herkert…·Lude Franke

This paper introduces GADO, a tool that uses gene expression data to predict gene-phenotype associations and improve diagnostic yield in exome sequencing by prioritizing variants in patients with unknown genetic diagnoses.

138 citationstop 1%

humanwhole-exome sequencing

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